2021
DOI: 10.1111/pde.14560
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Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum

Abstract: Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X‐linked inherited disease caused by pathogenic variants in the gene encoding the membrane‐bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis follicularis, alopecia, photophobia and developmental delay. Hereditary mucoepithelial dysplasia (HMD) is a dominantly inherited disease characterized by keratitis, non‐scarring alopecia, skin lesions including follicular keratosis, perineal erythema, and… Show more

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Cited by 7 publications
(9 citation statements)
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“…In addition, one start codon variant and three intronic variants in MBTPS2 were reported to cause IFAP triad along with many variable features. 2,[10][11][12] Interestingly, one male carrying an intronic variant c.671-9T>G showed extra features of palmoplantar and periorificialkeratoderma, reminiscent of Olmsted syndrome. 10 Olmsted syndrome is characterized by the presentation of bilateral mutilating palmoplantar keratoderma and periorificial hyperkeratotic plaques.…”
Section: Discussionmentioning
confidence: 99%
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“…In addition, one start codon variant and three intronic variants in MBTPS2 were reported to cause IFAP triad along with many variable features. 2,[10][11][12] Interestingly, one male carrying an intronic variant c.671-9T>G showed extra features of palmoplantar and periorificialkeratoderma, reminiscent of Olmsted syndrome. 10 Olmsted syndrome is characterized by the presentation of bilateral mutilating palmoplantar keratoderma and periorificial hyperkeratotic plaques.…”
Section: Discussionmentioning
confidence: 99%
“…Although the variant was previously reported in an Argentinian boy who had clinical features of IFAP triad, global developmental delay, and absence seizures, the nature of the variant was not elucidated by the study. 2 We identified the pathogenicity of the variant via direct cDNA sequencing and a mini-gene assay. When evaluating the effect of splice-site variants, direct cDNA sequencing can be chosen as the first option if fresh samples are available and mini-gene assays as an alternative if samples are not available in time.…”
Section: Discussionmentioning
confidence: 99%
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“…Ichthyosis follicularis (IF) is a distinct syndromic form of ichthyosis, which has been reported in association with atrichia and photophobia (IF-alopecia-photophobia syndrome), caused by mutations in the genes SREBF1 and MBTPS2. 1 IF with bilateral sensorineural hearing loss (SNHL) and palmoplantar keratoderma (PPK) was previously shown in two families with autosomal recessive mutations in the Gap junction beta 2 gene (GJB2), encoding Connexin 26 (Cx26). 2 Germline GJB2 mutations have been associated with keratitis-ichthyosis-deafness (KID) syndrome.…”
mentioning
confidence: 99%